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Article

Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene.

American journal of hematology - 1 Jul 2007

Rojnuckarin Ponlapat, Settapiboon Rung, Vanichsetakul Preeda, Sueblinvong Tada, Sutcharitchan Pranee

Abstract excerpt

beta Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe beta thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22-bp tandem duplication in the paternal allele...

Topics

Alleles
Base Pairing
Base Sequence
Fathers
Female
Gene Duplication
Globins
Hemoglobin E
Humans
Infant
Male
Molecular Sequence Data

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beta-Thalassemia

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Identifiers

PMID: 17160997
DOI: 10.1002/ajh.20816

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